Cargando…

Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy

PURPOSE: To report the novel causative variants in five Chinese families with familial exudative vitreoretinopathy (FEVR). METHODS: Five unrelated Chinese families diagnosed with FEVR were enrolled in this study. Ocular examinations and genetic analysis were performed on the probands and family memb...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, You, Wang, Qiong, Li, Songshan, Ding, Xiaoyan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2023
Materias:	Retina
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10230444/ https://www.ncbi.nlm.nih.gov/pubmed/37252707 http://dx.doi.org/10.1167/tvst.12.5.29

Ejemplares similares

FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations
por: Lu, Jinglin, et al.
Publicado: (2022)

Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations
por: Huang, Li, et al.
Publicado: (2023)

Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy
por: Xu, Yu, et al.
Publicado: (2014)

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy
por: Shurygina, Maria F., et al.
Publicado: (2020)

Quantitative Analysis of Vascular Abnormalities in Full-Term Infants With Mild Familial Exudative Vitreoretinopathy
por: Li, Peng, et al.
Publicado: (2023)

Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes
por: Yang, Huiqin, et al.
Publicado: (2011)

A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy
por: Li, Wei, et al.
Publicado: (2019)

Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy
por: Dan, Handong, et al.
Publicado: (2022)

Familial Exudative Vitreoretinopathy
por: Sızmaz, Selçuk, et al.
Publicado: (2015)

Whole-Gene Deletions of FZD4 Cause Familial Exudative Vitreoretinopathy
por: Huang, Li, et al.
Publicado: (2021)

Asymmetric presentations of familial exudative vitreoretinopathy
por: Natung, Tanie, et al.
Publicado: (2013)

Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy
por: Mao, Jianbo, et al.
Publicado: (2022)

CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis
por: Yang, Mu, et al.
Publicado: (2022)

Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy
por: Fei, Ping, et al.
Publicado: (2014)

Five novel copy number variations detected in patients with familial exudative vitreoretinopathy
por: Luo, Jia, et al.
Publicado: (2021)

Effect of Methotrexate on an In Vitro Patient-Derived Model of Proliferative Vitreoretinopathy
por: Amarnani, Dhanesh, et al.
Publicado: (2017)

Novel mutations in FZD4 and phenotype–genotype correlation in Chinese patients with familial exudative vitreoretinopathy
por: Tang, Miao, et al.
Publicado: (2016)

A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy
por: Zhong, Junwei, et al.
Publicado: (2022)

Epithelial Membrane Protein-2 in Human Proliferative Vitreoretinopathy and Epiretinal Membranes
por: Telander, David G., et al.
Publicado: (2016)

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy
por: Yang, Huiqin, et al.
Publicado: (2012)

Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy
por: Fei, Ping, et al.
Publicado: (2015)

EGF Receptor Signaling Modulates YAP Activation and Promotes Experimental Proliferative Vitreoretinopathy
por: Zhang, Wei, et al.
Publicado: (2022)

Using Advanced Bioinformatics Tools to Identify Novel Therapeutic Candidates for Proliferative Vitreoretinopathy
por: Xie, Edward F., et al.
Publicado: (2023)

Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease
por: Liu, Jingjing, et al.
Publicado: (2018)

Familial exudative vitreoretinopathy presentation as persistent fetal vasculature
por: Kartchner, Jeffrey Z., et al.
Publicado: (2017)

Posterior keratoconus in a patient with familial exudative vitreoretinopathy
por: Agarwal, Pulak, et al.
Publicado: (2020)

Familial exudative vitreoretinopathy associated with retinal astrocytic hamartoma
por: Fan, Jason, et al.
Publicado: (2022)

Unilateral Familial Exudative Vitreoretinopathy: Clinical Profile and Pathology
por: Boal, Nina S., et al.
Publicado: (2021)

Mutation spectrum in a cohort with familial exudative vitreoretinopathy
por: Qu, Ning, et al.
Publicado: (2022)

An SNX31 variant underlies dominant familial exudative vitreoretinopathy-like pathogenesis
por: Xu, Ningda, et al.
Publicado: (2023)

Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy
por: Jia, Li-Yun, et al.
Publicado: (2021)

Single-Cell Protein and Transcriptional Characterization of Epiretinal Membranes From Patients With Proliferative Vitreoretinopathy
por: Laich, Yannik, et al.
Publicado: (2022)

Vitreous M2 Macrophage-Derived Microparticles Promote RPE Cell Proliferation and Migration in Traumatic Proliferative Vitreoretinopathy
por: Song, Yinting, et al.
Publicado: (2021)

Increased Glial Fibrillary Acid Protein and Vimentin in Vitreous Fluid as a Biomarker for Proliferative Vitreoretinopathy
por: Lee, Sun Young, et al.
Publicado: (2020)

Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy
por: Lin, Ying, et al.
Publicado: (2018)

Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy
por: Iarossi, Giancarlo, et al.
Publicado: (2017)

Adams Oliver syndrome: A mimicker of familial exudative vitreoretinopathy
por: Alsulaiman, Alwaleed M., et al.
Publicado: (2020)

Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy
por: Tao, Tianchang, et al.
Publicado: (2021)

Commentary: Familial exudative vitreoretinopathy-The masquerade in pediatric retinal disorders
por: Sen, Parveen, et al.
Publicado: (2022)

Refractive Status and Biometric Characteristics of Children With Familial Exudative Vitreoretinopathy
por: Hu, Yarou, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_54gbplhfi5d27rqcu710a0sqr8